Dr. Uppugunduri’s research has focused on Pharmacogenetics and personalized medicine. Dr. Uppugunduri’s earlier work was on the drug metabolizing enzyme CYP2C19, which is involved in the metabolism of many therapeutic agents (e.g. Clopidogrel, omeprazole, voriconazole).

He is a part of the group that works on personalizing chemotherapy and the conditioning regimens prior to allogeneic stem-cell transplantation in children and adolescents. In addition he is currently pursuing the following research projects that are aimed at evaluating the possibilities of identifying pharmacogenetic information with a potential for implementation to improve the clinical care in pediatric onco-hematology.

Understanding the mechanisms of acquired drug resistance to alkylating agents and DNA synthesis inhibitors. and cross talk between primary and acquired resistance to these agents.

Molecular and Pharmacogenetic marker evaluation in relation to the and toxicity and clinical response of acute lymphoblastic leukemia treatment in Indian children (MPGxINDALL)

As a part of CPIC, Dr. Uppugunduri is involved in the development of a clinical guidelines for personalized proton pump inhibitor dosing based on CYP2C19 gene (in development). He is also a member of the educational division of European Society of Pharmacogenomics and Personalized Therapy (ESPT). Dr. Uppugunduri is involved in knowledge dissemination via virtual platforms for e.g. he founded a forum on personalized medicine earlier in nature work, and currently available at www.personalizedmedicine.in to engage researchers with similar interests and to have a dialogue.

Dr. Uppugunduri is currently working at Onco-Hematology unit, Department of Paediatrics, Gynaecology and Obstetrics, University of Geneva. He is also affiliated to a foundation supporting the research in pediatric onco-hematology (www.cansearch.ch). Dr. Uppugunduri is a recognized Clinical Pharmacologist (NON MD title by Swiss Society of Clinical Pharmacology and Toxicology) and participates in the implementation of therapeutic drug monitoring. He works with multidisciplinary team at his unit and laboratory, has strong collaboration with the teams of Clinical Pharmacology and Toxicology Division (https://www.hug-ge.ch/pharmacologie-toxicologie-cliniques) at University Hospitals of Geneva (University of Geneva). Dr. Uppugunduri is working with the objective of developing, evaluating, interpreting new/existing pharmacogenetics markers with clinical utility. He is also participating in teaching /education of medical doctors/allied health professionals in training on topics in clinical pharmacology and pharmacogenetics.

​Dr. Chiara Fabbri is a postdoctoral Marie Skłodowska-Curie fellow at King’s College London (United Kingdom). Her current research project (ESTREA: https://www.kcl.ac.uk/ioppn/depts/sgdp-centre/research/estrea) aims to study the contribution of rare and common genetic variants to the risk of developing treatment-resistant depression, a condition that is observed in up to 30% of depressed patients. The innovative features of this project include the study of rare variants obtained through whole exome sequencing in antidepressant response in conjunction with common variants from genome-wide genotyping. The project aims to use this genetic information and clinical factors for developing predictive models of treatment non-response and treatment resistance. A reliable baseline estimation of the risk of treatment-resistant depression could lead to the early prescription of treatments which today are prescribed only to patients who had no benefit from two or more antidepressants and kept suffering from depression for months or sometimes years.

Dr. Chiara Fabbri is also a psychiatrist and she has worked mostly with patients having mood disorders at Bologna University (Italy) and in London (Affective Disorders Service, Maudsley Hospital). Knowing the clinical presentations of mood disorders and having direct contact with patients represent a great help in her everyday research work, in terms of motivation and expertise. ​

​I joined the Department of Clinical Pharmacy in the University of Michigan College of Pharmacy as a research assistant professor in 2013 and became an assistant professor in 2016. I received my PharmD from the Ernest Mario School of Pharmacy at Rutgers University and PhD in pharmaceutical sciences from the University of North Carolina Eshelman School of Pharmacy working with Dr. Howard McLeod in cancer pharmacogenetics, specifically the pharmacogenetics of taxane-induced neuropathy. My research focus is the discovery and translation of patient-specific (clinical, genetic, kinetic, metabolomic, etc.) predictors of cancer treatment outcomes. My career objective is to develop tools for individualized cancer treatment and translate them into clinical practice to optimize therapeutic outcomes. Within my overall career objective, since graduate school, I have been particularly interested in prediction and avoidance of taxane-induced peripheral neuropathy.

I have performed several retrospective analyses of clinical trial datasets to discover pharmacogenetic, pharmacokinetic, and pharmacometabolomic predictors of paclitaxel-induced peripheral neuropathy and am currently collecting and analyzing larger cooperative group clinical trial cohorts to validate these findings. One ongoing project that I am particularly excited is using our previously published neuropathy prediction model, which includes paclitaxel pharmacokinetics and dosing, and attempting to introduce genetics to explain residual variability in the “neuropathy sensitivity” phenotype. I also have ongoing work in the pharmacogenetics of hormonal treatment in breast cancer. I am currently leading a meta-analysis of all patient cohorts that have tamoxifen pharmacokinetic data and CYP2D6 genetic data to generate an endoxifen prediction algorithm and empirically derive estimates of the percentage activity of individual CYP2D6 alleles. I hope that this project will improve the accuracy of translating CYP2D6 genotype into predicted activity phenotype and produce a percentage phenotypic activity that is more intuitive for clinicians.​​

Dr. Ramsey’s basic research has focused on the transporter SLCO1B1, which is involved in the distribution of many natural compounds (like bilirubin) and drugs (e.g. methotrexate). She was part of the group that first quantified the contribution of rare variants to a pharmacogenetic trait. As part of CPIC, Dr. Ramsey was involved in the development of a clinical guideline for personalized simvastatin dosing based on the SLCO1B1 gene (read more). Her lab is now pursuing how genetic variants influence the transport of methotrexate in children and mice with arthritis. Dr. Ramsey has joined Cincinnati Children’s Genetic Pharmacology Service to implement pharmacogenetics in patient care. She works with this multidisciplinary team to develop, interpret and implement new pharmacogenetic tests in the electronic medical record. She also educates doctors, pharmacists, genetic counselors and nurses on when and how to use the tests in the clinic.

Dr. Scott is an Associate Professor in the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai in New York, and is a Laboratory Director and Division Head of Pharmacogenomics at Sema4 (previously the Mount Sinai Genetic Testing Laboratory). He is certified by the American Board of Medical Genetics and Genomics (ABMGG) in both Clinical Molecular Genetics and Clinical Cytogenetics and Genomics, and his research interests include pharmacogenomics, cytogenomics, long-read sequencing, and the implementation of genomic medicine. Dr. Scott is also a member of the Institute for Personalized Medicine (IPM) at Mount Sinai, where he serves on the pharmacogenomics implementation team. Additionally, he is a member of the Clinical Pharmacogenetics Implementation Consortium (CPIC), ClinGen, eMERGE/IGNITE, PharmVar, International Union of Basic and Clinical Pharmacology (IUPHAR), and other national and international pharmacogenomics consortia.

Associate ProfessorIcahn School of Medicine at Mount SinaiDepartment of Genetics and Genomic Sciencesstuart.scott@mssm.edu

He is the co-editor of Pharmacogenomics: Challenges and Opportunities in Therapeutic Implementation (2nd edition), and his notable honors include the 2011 William Bowes Jr Award in Medical Genetics from Partners HealthCare Center for Personalized Genetic Medicine, and the 2012 Dr. Harold and Golden Lamport Research Award from the Icahn School of Medicine at Mount Sinai.

Dr. Haidar is the Clinical Pharmacogenetic Coordinator at St. Jude Children’s Research Hospital. She leads the Clinical Pharmacogenetics Service at St. Jude and coordinates the implementation of the institution’s preemptive pharmacogenetics protocol PG4KDS (www.stjude.org/pg4kds). She is an active member of the Clinical Pharmacogenetics Implementation Consortium (CPIC) where she has co-authored five guidelines and participated in the CYP2D6 genotype to phenotype standardization project. She is also a member of the CPIC Informatics Working Group that focuses on informatics aspects related to implementing the CPIC guidelines in clinical practice. Dr. Haidar’s main job functions include translating the scientific knowledge gained in pharmacogenomics into clinical practice. She has been an invited speaker at multiple national and international meetings to discuss St. Jude’s use of preemptive pharmacogenetics.

Her primary research interests are in the fields of pediatric cancer, pain, and pharmacogenomics. Dr. Haidar is the program coordinator for St. Jude’s ASHP-accredited PGY2 Clinical Pharmacogenomics Residency and is also an Assistant Professor of Clinical Pharmacy at The University of Tennessee Health Science Center. She is double board certified (BPS) in Pharmacotherapy and Oncology.

We expect to provide a comprehensive view of the ‘CYP3A interactome’, clarifying a substantial portion of CYP3A variability. The goal is to identify the main genetic and non-genetic determinants of CYP3A enzyme activity, with clinical utility as biomarkers guiding drug therapy. The approaches used in this project are broadly applicable to any genes of interest, to dissect complex genomic architecture, gene regulatory networks and discover genetic biomarkers for personalized drug therapy or disease prevention.

Dr. Tamraz is an Assistant Professor in the Department of Clinical Pharmacy at UCSF School of Pharmacy. His overall goal is to build a patient-oriented program of pharmacogenetics (PGx) research, teaching and clinical practice that utilizes genetics for therapy optimization at UCSF and beyond. To this end, he is leading projects with an overarching vision of creating the UCSF Health-School of Pharmacy PGx clinical service. As part of this effort, he is in the last phase of CLIA validation of a gene panel for clinical PGx testing at UCSF Health, is leading cost-effectiveness analyses and planning and developing a clinical decision support (CDS) structure for delivering the PGx recommendations from lab to frontline clinicians. In addition to application of PGx, Dr. Tamraz is engaged in numerous PGx studies in the areas of HIV, pediatric bone marrow transplant, ophthalmology and in vitro fertilization. He recently published a genome wide association study of atazanavir exposure measured in hair of women in the Women’s Interagency HIV Study (WIHS) cohort that identified a SNP in SORCS2 associated with decreased exposure.

Dr. Cavallari’s research involves discovery of genetic associations with drug response and translation of these discoveries into clinical practice. Her laboratory has focused on identifying genetic associations with dose requirements of the anticoagulant warfarin, particularly in minority populations. This work led to clinical implementation of genotype-guided warfarin dosing at her previous institution. As part of the NHLBI Implementing Genomics in Practice (IGNITE) network, she is collaborating with investigators across the U.S. to investigate strategies and clinical outcomes with genotype-guided therapies. The group recently found a lower risk for adverse cardiovascular events with genotype-guided antiplatelet therapy in patients undergoing coronary intervention.

Dr. Caudle is the Clinical Pharmacogenetics Implementation Consortium (CPIC) Director. CPIC provides guidelines that enable the translation of genetic laboratory test results into actionable prescribing decisions for specific drugs. To date, CPIC has published 21 gene-based clinical guidelines. In this position, Dr. Caudle oversees all CPIC activities such as the CPIC guideline development process including the coordination of the guideline writing committees, the guideline evidence reviews, and the writing of the guideline manuscript and supplement. She also leads projects related to standardization of pharmacogenetic test results such as the CPIC term and CYP2D6 genotype to phenotype standardization projects. Dr. Caudle is based in the clinical pharmacogenetics group at St. Jude Children's Research Hospital. Dr. Caudle received her Pharm.D. and Ph.D. from The University of Tennessee Health Science Center and completed an ASHP-accredited PGY2 residency at Le Bonheur Children’s Research Hospital. She is also a board‐certified Pharmacotherapy Specialist. Dr. Caudle is currently an affiliate Assistant Professor at The University of Tennessee Health Science Center.